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Updated: Jun 27, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation
Ashutosh D Wechalekar1, Mark Offer, Julian D Gillmore
1National Amyloidosis Centre, Centre for Amyloidosis & Acute Phase Proteins, Department of Medicine (Hampstead Campus), Royal Free and University College Medical School, London, UK. a.wechalekar@medsch.ucl.ac.uk
Background:
A 46-year-old Afro-Caribbean man presented with progressive dyspnea and recurrent syncope. Clinical examination revealed evidence of biventricular failure.
Investigations:
Electrocardiography, echocardiography, cardiac biopsy, measurement of serum levels of free light chain, scintigraphy with radiolabeled serum amyloid P component, transthyretin gene sequencing and immunohistochemistry.
Diagnosis:
Cardiac acquired monoclonal immunoglobulin-light-chain amyloidosis with the incidental presence of the amyloidogenic transthyretin Val122Ile mutation.
Management:
The patient was referred for consideration of urgent cardiac transplantation and subsequent autologous stem cell transplantation. Unfortunately, he died suddenly within a few weeks of referral.
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